P10A (p.Pro10Ala) variant of SMAD3 (SMAD family member 3)
P10A (p.Pro10Ala) in SMAD3 (SMAD family member 3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Aneurysm-osteoarthritis syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
P10A (p.Pro10Ala) variant details
- p.Pro10Ala
- rs1442483457
- ClinGen CA393202721
- ClinVar RCV004703279
- gnomAD rs1442483457
- Uncertain significance
- Aneurysm-osteoarthritis syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.616
- REVEL 0.60
- CADD 23.30
- PolyPhen-2 0.90
- SIFT 0.06
- ClinVar: Uncertain significance (Aneurysm-osteoarthritis syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Loeys-Dietz Syndrome. (PMID 20301312)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)